Variant report

Variant	rs484262
Chromosome Location	chr11:66399681-66399682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66359645..66362188-chr11:66397594..66399880,3	MCF-7	breast:
2	chr11:66360820..66362451-chr11:66399115..66401694,2	K562	blood:

Variant related genes	Relation type
ENSG00000182791	Chromatin interaction
ENSG00000173992	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12795774	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1987169	0.81[EUR][1000 genomes]
rs2242663	0.86[JPT][hapmap]
rs3741364	0.80[CEU][hapmap]
rs481296	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs508996	0.83[EUR][1000 genomes]
rs532439	0.90[CEU][hapmap];0.86[GIH][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs551708	0.82[ASW][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.80[LWK][hapmap];0.83[MEX][hapmap];0.97[MKK][hapmap];0.83[YRI][hapmap]
rs597626	0.82[LWK][hapmap]
rs624561	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs484262	ASRGL1	cis	parietal	SCAN
rs484262	FERMT3	cis	cerebellum	SCAN
rs484262	CCS	cis	multi-tissue	Pritchard
rs484262	CCS	cis	lymphoblastoid	seeQTL
rs484262	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs484262	ACTN3	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66385400-66406200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66386800-66405600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:66387000-66403400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:66387600-66401800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:66388600-66402400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:66388800-66399800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:66388800-66401200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:66388800-66402400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:66388800-66402400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:66388800-66402400	Strong transcription	Fetal Muscle Leg	muscle
11	chr11:66388800-66402800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:66388800-66403800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:66388800-66404400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:66388800-66404800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:66389000-66404400	Strong transcription	Fetal Thymus	thymus
16	chr11:66389200-66402400	Strong transcription	Fetal Intestine Large	intestine
17	chr11:66389200-66402800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:66389800-66401200	Strong transcription	Thymus	Thymus
19	chr11:66390200-66401200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:66390600-66402600	Strong transcription	K562	blood
21	chr11:66390600-66404800	Strong transcription	Fetal Intestine Small	intestine
22	chr11:66390800-66402200	Strong transcription	Hela-S3	cervix
23	chr11:66390800-66402600	Strong transcription	A549	lung
24	chr11:66390800-66403200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:66391000-66404200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:66391200-66402400	Strong transcription	Osteobl	bone
27	chr11:66391200-66403200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:66391200-66403800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:66391200-66404400	Strong transcription	Fetal Stomach	stomach
30	chr11:66391200-66404600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:66391400-66400000	Strong transcription	NH-A	brain
32	chr11:66391600-66404800	Weak transcription	Fetal Brain Male	brain
33	chr11:66391800-66402400	Strong transcription	Liver	Liver
34	chr11:66392400-66402200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:66392600-66400200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:66393400-66401200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:66394200-66400000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:66394200-66405200	Weak transcription	Psoas Muscle	Psoas
39	chr11:66394800-66404800	Weak transcription	Fetal Heart	heart
40	chr11:66395000-66405200	Weak transcription	Small Intestine	intestine
41	chr11:66395400-66405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:66396200-66400000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:66396600-66405000	Weak transcription	Stomach Mucosa	stomach
44	chr11:66396600-66405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:66397000-66405000	Weak transcription	Left Ventricle	heart
46	chr11:66397000-66405000	Weak transcription	Right Atrium	heart
47	chr11:66397000-66405000	Weak transcription	Right Ventricle	heart
48	chr11:66397000-66405400	Weak transcription	Esophagus	oesophagus
49	chr11:66397000-66405400	Weak transcription	Pancreas	Pancrea
50	chr11:66397200-66401800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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